2 Matching Annotations
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  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    High frequency of novel germline mutations in the VHL gene in the heterogeneous population of Brazil
    2
    1. ClingenBaseline 21 Oct 2026

      PatientID: None

      KindredID: 6

      Case: Sex Unknown, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: No family history of VHL. Parents underwent genetic testing and were not found to harbor the P102Rfs*57 (c.305del) germline variant of the VHL gene, confirming a de novo mutation in the current patient.

      CasePresentingHPOs: HP:0010797; HP:0005584; HP:0002894 (Hemangioblastoma, Renal cell carcinoma, Neoplasm of the pancreas)

      CaseHPOFreeText: CNS hemangioblastoma, pancreatic cystadenoma and Renal carcinoma.

      CaseNotHPOs: HP:0009711; HP:0002894; HP:0002666 (Retinal capillary hemangioma, Neoplasm of the pancreas, Pheochromocytoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.P102Rfs*57 (c.305del)

      LegacyVariant: N/A

      CaseProblemVariantFreeText:

      ClinVarID: N/A

      CAID: CA658820710, https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.305del

      gnomAD: N/A

      VariantEvidence: This variant was not found in 120 alleles from normal subjects in the Brazilian population.

      MutationType: deletion; minus_1_frameshift_variant

      CivicName: P102fs (c.305del)

      MultipleGeneVariants: N/A

      InheritancePattern:DeNovoAssertion DiseaseEntity:VHL DiseaseEntity:renalcellcarcinoma DiseaseEntity:neoplasmofthepancreas DiseaseEntity:hemangioblastoma Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:305 ProteinPosition:102 AminoAcidChange:PROtoARG ClinVarID:N/A CAID:CA658820710 MutationType:deletion MutationType:minus_1_frameshift_variant NonFamilial deNovoConfirmed CivicName:P102fs(c.305del) inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
    2. ClingenBaseline 21 Oct 2026

      PatientID: None

      KindredID: 6

      Case: Sex Unknown, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: No family history of VHL. Parents underwent genetic testing and were not found to harbor the P102Rfs*57 (c.305del) germline variant of the VHL gene, confirming a de novo mutation in the current patient.

      CasePresentingHPOs: HP:0010797; HP:0005584; HP:0002894 (Hemangioblastoma, Renal cell carcinoma, Neoplasm of the pancreas)

      CaseHPOFreeText: CNS hemangioblastoma, pancreatic cystadenoma and Renal carcinoma.

      CaseNotHPOs: HP:0009711; HP:0002894; HP:0002666 (Retinal capillary hemangioma, Neoplasm of the pancreas, Pheochromocytoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.P102Rfs*57 (c.305del)

      LegacyVariant: N/A

      CaseProblemVariantFreeText:

      ClinVarID: N/A

      CAID: CA658820710, https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.305del

      gnomAD: N/A

      VariantEvidence: This variant was not found in 120 alleles from normal subjects in the Brazilian population.

      MutationType: deletion; minus_1_frameshift_variant

      CivicName: P102fs (c.305del)

      MultipleGeneVariants: N/A

      InheritancePattern:DeNovoAssertion DiseaseEntity:VHL DiseaseEntity:renalcellcarcinoma DiseaseEntity:neoplasmofthepancreas DiseaseEntity:hemangioblastoma Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:305 ProteinPosition:102 AminoAcidChange:PROtoARG ClinVarID:N/A CAID:CA658820710 MutationType:deletion MutationType:minus_1_frameshift_variant NonFamilial deNovoConfirmed CivicName:P102fs(c.305del) inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/12624160/